A neonate is born with a port-wine stain (nevus flammeus) over the ophthalmic division (V1) of the trigeminal nerve. Which associated condition should be screened for?

• A Sturge-Weber syndrome (encephalotrigeminal angiomatosis) ✓
• B Neurofibromatosis type 1
• C Tuberous sclerosis
• D von Hippel-Lindau disease

Explanation

A port-wine stain involving the V1 (ophthalmic) or V1 + V2 distribution of the trigeminal nerve in a neonate raises concern for Sturge-Weber syndrome, a non-hereditary phakomatosis characterised by ipsilateral leptomeningeal vascular malformation, epilepsy, intellectual disability, and ipsilateral glaucoma. MRI brain with contrast and ophthalmology review for glaucoma are essential. NF1 is associated with café-au-lait macules and neurofibromas, not port-wine stains. Tuberous sclerosis presents with ash-leaf macules and angiofibromas. VHL involves cerebellar and retinal haemangioblastomas.

Reference: Ghai Essential Pediatrics, 10th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.